A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898446



Internal ID173101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237840732..238565197hg38UCSC Ensembl
chr1:238004032..238728497hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38724466
hg19724466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438107
Supporting Variants
Samples
Known GenesLINC01139, LOC100130331, ZP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer